scholarly article | Q13442814 |
P2093 | author name string | Y Zhao | |
H Zhao | |||
L M Austin | |||
R A Sturm | |||
V J Hearing | |||
R A King | |||
W S Oetting | |||
J J Nordlund | |||
R E Boissy | |||
S C Wildenberg | |||
Y L Boissy | |||
P2860 | cites work | A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism | Q24320016 |
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism | Q24337149 | ||
A second tyrosinase-related protein, TRP-2, maps to and is mutated at the mouse slaty locus | Q24555704 | ||
Murine and human b locus pigmentation genes encode a glycoprotein (gp75) with catalase activity | Q24557875 | ||
Nucleotide sequence of the cDNA encoding human tyrosinase-related protein | Q24614370 | ||
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse | Q24619568 | ||
Human tyrosinase-like protein (TYRL) carboxy terminus: closer homology with the mouse protein than previously reported | Q24629217 | ||
The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2-q12 | Q24669671 | ||
Detection of specific sequences among DNA fragments separated by gel electrophoresis | Q25939003 | ||
A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity | Q26778490 | ||
African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism | Q28238259 | ||
Subcellular distribution of tyrosinase and tyrosinase-related protein-1: implications for melanosomal biogenesis. | Q54773135 | ||
Phenotypic rescue of mutant brown melanocytes by a retrovirus carrying a wild-type tyrosinase-related protein gene | Q57338477 | ||
Albinism | Q67260684 | ||
Hairbulb tyrosinase activity in oculocutaneous albinism | Q67525751 | ||
Synthesis and characterization of melanins from dihydroxyindole-2-carboxylic acid and dihydroxyindole | Q67562049 | ||
Identification of a platelet dense granule membrane protein that is deficient in a patient with the Hermansky-Pudlak syndrome | Q68177008 | ||
Detection of S-100 protein as an aid to the identification of melanocytic tumors | Q71445491 | ||
Analysis of tyrosinase gene mutations using direct automated infrared fluorescence DNA sequencing of amplified exons | Q72048845 | ||
mRNA surveillance by the Caenorhabditis elegans smg genes | Q72234045 | ||
Tyrosinase isoenzymes in mammalian melanocytes. 1. Biochemical characterization of two melanosomal tyrosinases from B16 mouse melanoma | Q72563981 | ||
Assignment of the human TYRP (brown) locus to chromosome region 9p23 by nonradioactive in situ hybridization | Q28240404 | ||
High-molecular-weight forms of tyrosinase and the tyrosinase-related proteins: evidence for a melanogenic complex | Q28245542 | ||
The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes | Q28257131 | ||
The human cation-independent mannose 6-phosphate receptor. Cloning and sequence of the full-length cDNA and expression of functional receptor in COS cells | Q28285673 | ||
Mapping the human CAS2 gene, the homologue of the mouse brown (b) locus, to human chromosome 9p22-pter | Q28303173 | ||
Effect of genic substitution on the incorporation of tyrosine into the melanin of mouse skin | Q28506241 | ||
The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon | Q29618647 | ||
A cDNA encoding tyrosinase-related protein maps to the brown locus in mouse | Q33581971 | ||
A second tyrosinase-related protein, TRP-2, is a melanogenic enzyme termed DOPAchrome tautomerase | Q33937361 | ||
Characterization of TRP-1 mRNA levels in dominant and recessive mutations at the mouse brown (b) locus. | Q33957063 | ||
Human tyrosinase gene, mapped to chromosome 11 (q14----q21), defines second region of homology with mouse chromosome 7. | Q34167892 | ||
Structural aberration of the rough endoplasmic reticulum and melanosome compartmentalization in long-term cultures of melanocytes from vitiligo patients | Q34596205 | ||
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism | Q35196703 | ||
Induction of pigmentation in mouse fibroblasts by expression of human tyrosinase cDNA | Q35201461 | ||
Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene | Q35223876 | ||
Mammalian tyrosinase-related protein-1 is recognized by autoantibodies from vitiliginous Smyth chickens. An avian model for human vitiligo | Q35798261 | ||
Regulation of tyrosinase in human melanocytes grown in culture | Q36207702 | ||
Cloning and expression of cDNA encoding mouse tyrosinase | Q36424864 | ||
Premature translation termination mediates triosephosphate isomerase mRNA degradation | Q36783476 | ||
Regulation of mRNA turnover in eukaryotic cells | Q37004798 | ||
A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism | Q37532574 | ||
Visualization of acidic organelles in intact cells by electron microscopy | Q37561491 | ||
Tyrosinase related protein 1 (TRP1) functions as a DHICA oxidase in melanin biosynthesis. | Q37639625 | ||
Molecular and developmental genetics of mouse coat color | Q40613974 | ||
Regulation of mRNA stability in development | Q40613991 | ||
Retroviral infection with human tyrosinase-related protein-1 (TRP-1) cDNA upregulates tyrosinase activity and melanin synthesis in a TRP-1-deficient melanoma cell line | Q41211702 | ||
Distinguishing between the catalytic potential and apparent expression of tyrosinase activities | Q41415125 | ||
On the analysis of the pathophysiology of Chediak-Higashi syndrome. Defects expressed by cultured melanocytes. | Q41456445 | ||
Human TRP-1 has tyrosine hydroxylase but no dopa oxidase activity | Q41464828 | ||
The tyrosinase gene family--interactions of melanogenic proteins to regulate melanogenesis | Q41504813 | ||
Pigmentation-associated glycoprotein of human melanomas and melanocytes: definition with a mouse monoclonal antibody | Q42527985 | ||
Unraveling the melanocyte. | Q43147197 | ||
Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism | Q44183968 | ||
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies | Q46135180 | ||
Albinism in Nigeria with delineation of new recessive oculocutaneous type. | Q46945844 | ||
Comparative analysis of melanins and melanosomes produced by various coat color mutants. | Q50519706 | ||
Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences. | Q50522916 | ||
Functional Properties of Cloned Melanogenic Proteins | Q50535590 | ||
Tyrosinases from two different loci are expressed by normal and by transformed melanocytes. | Q50545838 | ||
Specific identification of an authentic clone for mammalian tyrosinase. | Q50559057 | ||
Anti-T4-tyrosinase monoclonal antibodies--specific markers for pigmented melanocytes. | Q50582309 | ||
Segregation analysis of brown oculocutaneous albinism. | Q50698441 | ||
Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization. | Q50913553 | ||
P433 | issue | 6 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | oculocutaneous albinism | Q2017741 |
P304 | page(s) | 1145-56 | |
P577 | publication date | 1996-06-01 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3" | |
P478 | volume | 58 |
Q34354851 | A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population |
Q51099996 | A deletion in the Hermansky-Pudlak syndrome 4 (Hps4) gene appears to be responsible for albinism in channel catfish. |
Q44702590 | A new continuous spectrophotometric assay method for DOPA oxidase activity of tyrosinase |
Q35607292 | A role for tyrosinase-related protein 1 in 4-tert-butylphenol-induced toxicity in melanocytes: Implications for vitiligo |
Q24291443 | AP-3 mediates tyrosinase but not TRP-1 trafficking in human melanocytes |
Q34470405 | Albinism: modern molecular diagnosis |
Q36008833 | Analysis of ocular hypopigmentation in Rab38cht/cht mice |
Q42327995 | Anti-Melanogenic Effect of Oenothera laciniata Methanol Extract in Melan-a Cells |
Q24337651 | BLOC-1 is required for cargo-specific sorting from vacuolar early endosomes toward lysosome-related organelles |
Q51399722 | Clinical evaluation and molecular screening of a large consecutive series of albino patients. |
Q57242494 | Compelling evidence that a single nucleotide substitution in TYRP1 is responsible for coat-colour polymorphism in a free-living population of Soay sheep |
Q28259397 | Complete sequence and polymorphism study of the human TYRP1 gene encoding tyrosinase-related protein 1 |
Q35255099 | Complex interactions of Tyrp1 in the eye |
Q91940140 | Comprehensive analysis of spectral distribution of a large cohort of Chinese patients with non-syndromic oculocutaneous albinism facilitates genetic diagnosis |
Q36742234 | Differential expression of TYRP1 in adult human retinal pigment epithelium and uveal melanoma cells |
Q36126272 | Genome-wide transcriptome analysis of human epidermal melanocytes |
Q33395814 | Homozygosity mapping and whole-exome sequencing to detect SLC45A2 and G6PC3 mutations in a single patient with oculocutaneous albinism and neutropenia |
Q28645914 | Identification of genes associated with shell color in the black-lipped pearl oyster, Pinctada margaritifera |
Q24536246 | In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified |
Q42020722 | Mechanistic Studies on the Use of Polygonum multiflorum for the Treatment of Hair Graying |
Q24623400 | Melanesian blond hair is caused by an amino acid change in TYRP1 |
Q57819234 | Minimal Efficacy of Nitisinone Treatment in a Novel Mouse Model of Oculocutaneous Albinism, Type 3 |
Q35005886 | Molecular and clinical characterization of albinism in a large cohort of Italian patients |
Q80586775 | Multilocus OCA2 genotypes specify human iris colors |
Q24536147 | Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4 |
Q33874135 | Myotis rufoniger genome sequence and analyses: M. rufoniger's genomic feature and the decreasing effective population size of Myotis bats |
Q28249590 | Nitisinone improves eye and skin pigmentation defects in a mouse model of oculocutaneous albinism |
Q34514157 | Ocular Findings in Patients with the Hermansky-Pudlak Syndrome (Types 1 and 3). |
Q21202962 | Oculocutaneous albinism |
Q30394454 | Oculocutaneous albinism type 1: link between mutations, tyrosinase conformational stability, and enzymatic activity. |
Q24534208 | Oculocutaneous albinism type 4 is one of the most common types of albinism in Japan |
Q33657494 | Pigmented human skin equivalent--as a model of the mechanisms of control of cell-cell and cell-matrix interactions |
Q92703538 | Protein Stability and Functional Characterization of Intra-Melanosomal Domain of Human Recombinant Tyrosinase-Related Protein 1 |
Q35069844 | Removal of potentially confounding phenotypes from a Siamese-derived feline glaucoma breeding colony. |
Q24677297 | Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene |
Q35837191 | STAP-2 Protein Expression in B16F10 Melanoma Cells Positively Regulates Protein Levels of Tyrosinase, Which Determines Organs to Infiltrate in the Body |
Q34882442 | Screening of TYR, OCA2, GPR143, and MC1R in patients with congenital nystagmus, macular hypoplasia, and fundus hypopigmentation indicating albinism. |
Q34287539 | Sequences associated with human iris pigmentation. |
Q34079314 | Spectrum of candidate gene mutations associated with Indian familial oculocutaneous and ocular albinism |
Q30485549 | Synteny and candidate gene prediction using an anchored linkage map of Astyanax mexicanus |
Q33899784 | The correlation of TRPM1 (Melastatin) mRNA expression with microphthalmia-associated transcription factor (MITF) and other melanogenesis-related proteins in normal and pathological skin, hair follicles and melanocytic nevi. |
Q60181976 | Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites |
Q41596025 | Tyrosinase gene mutations in the Chinese Han population with OCA1. |
Q37842937 | Tyrosinase related protein 1 (TYRP1/gp75) in human cutaneous melanoma |
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